Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.
Dutch lipid clinic network criteria
LDLR
cardiovascular risk
familial hypercholesterolemia
next generation sequencing
Journal
Journal of cardiovascular development and disease
ISSN: 2308-3425
Titre abrégé: J Cardiovasc Dev Dis
Pays: Switzerland
ID NLM: 101651414
Informations de publication
Date de publication:
14 May 2020
14 May 2020
Historique:
received:
27
02
2020
revised:
28
04
2020
accepted:
08
05
2020
entrez:
20
5
2020
pubmed:
20
5
2020
medline:
20
5
2020
Statut:
epublish
Résumé
Russian patients with familial hypercholesterolemia (FH) were screened for pathogenic mutations using targeted next generation sequencing. Genetic testing was performed in 52 probands with definite or probable FH based on the Dutch lipid clinic network criteria (DLCN score ≥6). Blood samples were studied by massive parallel sequencing (Illumina HiSeq 1500 platform) using a custom capture library related to dyslipidemia and premature atherosclerosis. Mutations considered to be responsible for monogenic FH were identified in 48% of the probands: 24 with mutations in the
Identifiants
pubmed: 32423031
pii: jcdd7020016
doi: 10.3390/jcdd7020016
pmc: PMC7345545
pii:
doi:
Types de publication
Journal Article
Langues
eng
Déclaration de conflit d'intérêts
The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses or interpretation of data; in the writing of the manuscript or in the decision to publish the results.
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